W32S (p.Trp32Ser) variant of NR2E3 (Q9Y5X4)
W32S (p.Trp32Ser) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W32S (p.Trp32Ser) variant details
- p.Trp32Ser
- gnomAD 15-71810811-C-CCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 20.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available