F121Y (p.Phe121Tyr) variant of REEP1 (Q9H902)
F121Y (p.Phe121Tyr) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F121Y (p.Phe121Tyr) variant details
- p.Phe121Tyr
- ExAC rs750434521
- gnomAD rs750434521
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.05
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available