M33I (p.Met33Ile) variant of SMPD1 (Sphingomyelin phosphodiesterase)
M33I (p.Met33Ile) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M33I (p.Met33Ile) variant details
- p.Met33Ile
- rs142178073
- ClinGen CA5852471
- ClinVar RCV000280282
- ClinVar RCV000972278
- Benign/Likely benign
- not specified; Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.05
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Benign/Likely benign (not specified; Niemann-Pick disease, type A; Niemann-Pick diseas)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)