L25M (p.Leu25Met) variant of CRX (Cone-rod homeobox protein)
L25M (p.Leu25Met) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L25M (p.Leu25Met) variant details
- p.Leu25Met
- gnomAD rs1210601065
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.33
- CADD 21.20
- PolyPhen-2 0.18
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -1.03