P31P (p.Pro31Pro) variant of CRX (Cone-rod homeobox protein)
P31P (p.Pro31Pro) in CRX (Cone-rod homeobox protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31P (p.Pro31Pro) variant details
- p.Pro31Pro
- gnomAD 19-47834536-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 9.22
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.327
- Literature evidence available