P477T (p.Pro477Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P477T (p.Pro477Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
P477T (p.Pro477Thr) variant details
- p.Pro477Thr
- rs2134021440
- ClinGen CA379375285
- ClinVar RCV001527429
- Ensembl rs2134021440
- Likely pathogenic
- Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.63
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A)
- EBI: Likely pathogenic (in NPDA and NPDB)
- UniProt: Likely pathogenic (in NPDA and NPDB)
- 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)