E33D (p.Glu33Asp) variant of RP2 (Protein XRP2)
E33D (p.Glu33Asp) in RP2 (Protein XRP2) 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, published literature, and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- gnomAD X-46837199-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.22
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available