V81I (p.Val81Ile) variant of NPC2 (P61916)
V81I (p.Val81Ile) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V81I (p.Val81Ile) variant details
- p.Val81Ile
- rs772444418
- ClinGen CA7268159
- ClinVar RCV002647806
- ExAC rs772444418
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.13
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)