G65V (p.Gly65Val) variant of NPC1 (O15118)
G65V (p.Gly65Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G65V (p.Gly65Val) variant details
- p.Gly65Val
- Ensembl rs2059213681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.52
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available