S65L (p.Ser65Leu) variant of CYP17A1 (P05093)
S65L (p.Ser65Leu) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- rs906926519
- ClinGen CA212296058
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64005
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.55
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available