V3I (p.Val3Ile) variant of SRD5A2 (P31213)
V3I (p.Val3Ile) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V3I (p.Val3Ile) variant details
- p.Val3Ile
- ExAC rs763681675
- TOPMed rs763681675
- gnomAD rs763681675
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 0.57
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available