Y27N (p.Tyr27Asn) variant of RP2 (Protein XRP2)
Y27N (p.Tyr27Asn) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y27N (p.Tyr27Asn) variant details
- p.Tyr27Asn
- gnomAD X-46837179-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.63
- CADD 27.60
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available