V36A (p.Val36Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V36A (p.Val36Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; Niemann-Pick disease, type B; Niemann-Pick disease, type A. 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.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- rs1050228
- ClinGen CA146857
- cosmic curated COSV54967
- ClinVar RCV000079189
- Likely benign
- not specified; Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.03
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAUR population (allele frequency 1)
- Structural context available
- Cited in: Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). (PMID 1740330)
- Cited in: Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease. (PMID 26084044)