V112I (p.Val112Ile) variant of EYS (Protein eyes shut homolog)
V112I (p.Val112Ile) in EYS (Protein eyes shut homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and published literature.
V112I (p.Val112Ile) variant details
- p.Val112Ile
- rs112609906
- ClinGen CA3878094
- cosmic curated COSV60990
- ClinVar RCV000337683
- Benign/Likely benign
- not specified; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.19
- CADD 3.84
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; not provided; Retinitis pigmentosa)
- EBI: Benign (in dbSNP:rs112609906)
- UniProt: Benign (in dbSNP:rs112609906)
- Population evidence available
- Cited in: EYS is a major gene for rod-cone dystrophies in France. (PMID 20333770)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)