S54C (p.Ser54Cys) variant of NPC2 (P61916)
S54C (p.Ser54Cys) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- rs2506107142
- ClinGen CA390532689
- ClinVar RCV002829491
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)