V66I (p.Val66Ile) variant of CRX (Cone-rod homeobox protein)
V66I (p.Val66Ile) in CRX (Cone-rod homeobox protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Retinal dystrophy; not specified; Leber congenital amaurosis 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- rs61748438
- ClinGen CA227614
- cosmic curated COSV55759
- ClinVar RCV000085992
- Benign/Likely benign
- Retinal dystrophy; not specified; Leber congenital amaurosis 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.56
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Benign/Likely benign (Retinal dystrophy; not specified; Leber congenital amaurosis 7)
- EBI: Benign (in dbSNP:rs61748438)
- UniProt: Benign (in dbSNP:rs61748438)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. (PMID 11139241)
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)