L127P (p.Leu127Pro) variant of CYP17A1 (P05093)
L127P (p.Leu127Pro) in CYP17A1 (P05093) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L127P (p.Leu127Pro) variant details
- p.Leu127Pro
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.79
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available