V118M (p.Val118Met) variant of NR2E3 (Q9Y5X4)
V118M (p.Val118Met) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Enhanced S-cone syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- rs776270511
- ClinGen CA393033791
- cosmic curated COSV10816
- ClinVar RCV001003094
- Likely pathogenic
- not provided; Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 26.30
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Likely pathogenic (not provided; Enhanced S-cone syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)