P76T (p.Pro76Thr) variant of APOA5 (Apolipoprotein A-V)
P76T (p.Pro76Thr) in APOA5 (Apolipoprotein A-V) 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 0.42 / 1. The record also includes population frequency data and structural context.
P76T (p.Pro76Thr) variant details
- p.Pro76Thr
- rs1038704562
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57064
- TOPMed rs1038704562
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.46
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available