P9S (p.Pro9Ser) variant of CRX (Cone-rod homeobox protein)
P9S (p.Pro9Ser) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 2; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- rs2123738269
- ClinGen CA406628746
- ClinVar RCV002000899
- Ensembl rs2123738269
- Uncertain significance
- Cone-rod dystrophy 2; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 2; Leber congenital amaurosis 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- CRX Homeobox domain domainome 1.0: score 0.0187
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)