G34S (p.Gly34Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G34S (p.Gly34Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- cosmic curated COSV54966
- ExAC rs774047252
- gnomAD rs774047252
- Uncertain significance
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.02
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available