Y63C (p.Tyr63Cys) variant of PSEN2 (Presenilin-2)
Y63C (p.Tyr63Cys) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- gnomAD rs1661151005
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.43
- CADD 19.10
- PolyPhen-2 0.40
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available