L11Q (p.Leu11Gln) variant of SRD5A2 (P31213)
L11Q (p.Leu11Gln) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- ExAC rs759544280
- TOPMed rs759544280
- gnomAD rs759544280
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available