D30H (p.Asp30His) variant of RP2 (Protein XRP2)
D30H (p.Asp30His) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D30H (p.Asp30His) variant details
- p.Asp30His
- ESP rs377324837
- ExAC rs377324837
- gnomAD rs377324837
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.57
- CADD 28.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available