A53T (p.Ala53Thr) variant of EYA1 (Protein phosphatase EYA1)
A53T (p.Ala53Thr) in EYA1 (Protein phosphatase EYA1) 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 0.28 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10038
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.03
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available