A23P (p.Ala23Pro) variant of NR2E3 (Q9Y5X4)
A23P (p.Ala23Pro) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Enhanced S-cone syndrome; Retinitis pigmentosa 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- rs771928643
- ClinGen CA7640183
- ClinVar RCV001062402
- ClinVar RCV001275368
- Uncertain significance
- not provided; Enhanced S-cone syndrome; Retinitis pigmentosa 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 15.10
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Enhanced S-cone syndrome; Retinitis pigmentosa 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)