I34V (p.Ile34Val) variant of NPC2 (P61916)
I34V (p.Ile34Val) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- rs2506107337
- ClinGen CA390532829
- ClinVar RCV003619455
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 12.80
- PolyPhen-2 0.08
- SIFT 0.38
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)