V342A (p.Val342Ala) variant of NR2E3 (Q9Y5X4)
V342A (p.Val342Ala) 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 0.65 / 1. The record also includes population frequency data.
V342A (p.Val342Ala) variant details
- p.Val342Ala
- rs757665544
- ClinGen CA7640481
- cosmic curated COSV58908
- ClinVar RCV001321099
- Likely pathogenic
- not provided; Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 27.80
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Enhanced S-cone syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00015)