P31A (p.Pro31Ala) variant of CRX (Cone-rod homeobox protein)
P31A (p.Pro31Ala) in CRX (Cone-rod homeobox protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- gnomAD 19-47834532-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 25.90
- Population evidence available
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.327
- Literature evidence available