L17F (p.Leu17Phe) variant of SRD5A2 (P31213)
L17F (p.Leu17Phe) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- gnomAD rs1175535089
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 16.20
- PolyPhen-2 0.90
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available