S24F (p.Ser24Phe) variant of NR2E3 (Q9Y5X4)
S24F (p.Ser24Phe) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- gnomAD 15-71810814-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 23.40
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available