I67S (p.Ile67Ser) variant of SRD5A2 (P31213)
I67S (p.Ile67Ser) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I67S (p.Ile67Ser) variant details
- p.Ile67Ser
- ESP rs376673386
- TOPMed rs376673386
- gnomAD rs376673386
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 23.20
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available