A56S (p.Ala56Ser) variant of CRX (Cone-rod homeobox protein)
A56S (p.Ala56Ser) in CRX (Cone-rod homeobox protein) 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, experimental measurements, published literature, and structural context.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- gnomAD 19-47836308-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- CADD 16.20
- PolyPhen-2 0.30
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.325
- Literature evidence available