P7S (p.Pro7Ser) variant of CRX (Cone-rod homeobox protein)
P7S (p.Pro7Ser) in CRX (Cone-rod homeobox protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD 19-47834462-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.41
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.535
- Literature evidence available