F61L (p.Phe61Leu) variant of SRD5A2 (P31213)
F61L (p.Phe61Leu) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
F61L (p.Phe61Leu) variant details
- p.Phe61Leu
- TOPMed rs61750385
- gnomAD rs61750385
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 10.40
- PolyPhen-2 0.22
- SIFT 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available