R37K (p.Arg37Lys) variant of CRX (Cone-rod homeobox protein)
R37K (p.Arg37Lys) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R37K (p.Arg37Lys) variant details
- p.Arg37Lys
- gnomAD 19-47836252-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.68
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.534
- Literature evidence available