S30N (p.Ser30Asn) variant of CYP17A1 (P05093)
S30N (p.Ser30Asn) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- gnomAD rs1341416067
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.31
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available