A107T (p.Ala107Thr) variant of EYA1 (Protein phosphatase EYA1)
A107T (p.Ala107Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A107T (p.Ala107Thr) variant details
- p.Ala107Thr
- cosmic curated COSV58176
- TOPMed rs1413761721
- gnomAD rs1413761721
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.36
- MetaLR 0.49
- MetaSVM -0.29
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available