S14R (p.Ser14Arg) variant of SRD5A2 (P31213)
S14R (p.Ser14Arg) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- ExAC rs766177308
- gnomAD rs766177308
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available