A53T (p.Ala53Thr) variant of PIK3CD (O00329)
A53T (p.Ala53Thr) in PIK3CD (O00329) 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 0.69 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- rs766440014
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63128
- ExAC rs766440014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.60
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available