P39A (p.Pro39Ala) variant of APOL1 (Apolipoprotein L1)
P39A (p.Pro39Ala) in APOL1 (Apolipoprotein L1) 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 0.11 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- NCI-TCGA Cosmic COSV5986
- NCI-TCGA Cosmic COSV5987
- cosmic curated COSV59870
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.04
- CADD 8.48
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available