Y22H (p.Tyr22His) variant of REEP1 (Q9H902)
Y22H (p.Tyr22His) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Y22H (p.Tyr22His) variant details
- p.Tyr22His
- Ensembl rs2104394911
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.63
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available