M106T (p.Met106Thr) variant of EYA1 (Protein phosphatase EYA1)
M106T (p.Met106Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
M106T (p.Met106Thr) variant details
- p.Met106Thr
- rs2129031597
- ClinGen CA371468616
- ClinVar RCV002214475
- Ensembl rs2129031597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- AlphaMissense 0.53
- MetaLR 0.59
- MetaSVM 0.03
- PolyPhen-2 0.12
- SIFT 0.07
- EVE 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available