L91V (p.Leu91Val) variant of NPC1 (O15118)
L91V (p.Leu91Val) in NPC1 (O15118) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L91V (p.Leu91Val) variant details
- p.Leu91Val
- rs773809600
- ClinGen CA401786369
- NCI-TCGA Cosmic COSV5258
- ClinVar RCV001893919
- Uncertain significance
- Inborn genetic diseases; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.43
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases; Niemann-Pick disease, type C1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)