V314A (p.Val314Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V314A (p.Val314Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V314A (p.Val314Ala) variant details
- p.Val314Ala
- rs1847944661
- ClinGen CA379371322
- ClinVar RCV003088035
- Ensembl rs1847944661
- Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)