H10P (p.His10Pro) variant of CRX (Cone-rod homeobox protein)
H10P (p.His10Pro) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H10P (p.His10Pro) variant details
- p.His10Pro
- ExAC rs754630141
- gnomAD rs754630141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.51
- CADD 21.90
- PolyPhen-2 0.79
- SIFT 0.61
- EBI: Variant of uncertain significance (in dbSNP:rs139340178)
- UniProt: Uncertain significance (in dbSNP:rs139340178)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -0.642