V36L (p.Val36Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V36L (p.Val36Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Niemann-Pick disease, type A; Niemann-Pick disease, typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs141685473
- ClinGen CA217298983
- ClinVar RCV002591782
- ClinVar RCV005744617
- Uncertain significance
- Inborn genetic diseases; Niemann-Pick disease, type A; Niemann-Pick disease, typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.03
- CADD 9.98
- PolyPhen-2 0.01
- SIFT 0.95
- ClinVar: Uncertain significance (Inborn genetic diseases; Niemann-Pick disease, type A; Niemann-P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00063)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)