H93Y (p.His93Tyr) variant of REEP1 (Q9H902)
H93Y (p.His93Tyr) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
H93Y (p.His93Tyr) variant details
- p.His93Tyr
- ExAC rs758589864
- TOPMed rs758589864
- gnomAD rs758589864
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.88
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available