A102D (p.Ala102Asp) variant of NR2E3 (Q9Y5X4)
A102D (p.Ala102Asp) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 37; Enhanced S-cone syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A102D (p.Ala102Asp) variant details
- p.Ala102Asp
- rs772881093
- ClinGen CA7640280
- ClinVar RCV000504667
- ClinVar RCV001074908
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Retinitis pigmentosa 37; Enhanced S-cone syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Retinitis pigmentosa 37; Enhanced S-cone synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)