Y129C (p.Tyr129Cys) variant of NPC1 (O15118)
Y129C (p.Tyr129Cys) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Y129C (p.Tyr129Cys) variant details
- p.Tyr129Cys
- Ensembl rs1363046191
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.47
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available