L25P (p.Leu25Pro) variant of CRX (Cone-rod homeobox protein)
L25P (p.Leu25Pro) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Cone-rod dystrophy 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- gnomAD rs1236725891
- Benign
- Cone-rod dystrophy 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.78
- CADD 27.10
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Benign (Cone-rod dystrophy 2)
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- CRX Homeobox domain domainome 1.0: score -1.03