A3P (p.Ala3Pro) variant of CRX (Cone-rod homeobox protein)
A3P (p.Ala3Pro) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- gnomAD rs1229606751
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.174