S54P (p.Ser54Pro) variant of NPC2 (P61916)
S54P (p.Ser54Pro) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S54P (p.Ser54Pro) variant details
- p.Ser54Pro
- rs767080399
- ClinGen CA7268188
- ClinVar RCV001906649
- ExAC rs767080399
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.57
- ESM-1b 0.28
- AlphaMissense 0.47
- CADD 25.50
- PolyPhen-2 0.88
- SIFT 0.04
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)