A16V (p.Ala16Val) variant of NR2E3 (Q9Y5X4)
A16V (p.Ala16Val) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Goldmann-Favre syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs1239436868
- ClinGen CA393031542
- ClinVar RCV001279039
- gnomAD rs1239436868
- Uncertain significance
- Goldmann-Favre syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (Goldmann-Favre syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available