W32R (p.Trp32Arg) variant of NR2E3 (Q9Y5X4)
W32R (p.Trp32Arg) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
W32R (p.Trp32Arg) variant details
- p.Trp32Arg
- ExAC rs377300789
- TOPMed rs377300789
- gnomAD rs377300789
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 20.40
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available