I30V (p.Ile30Val) variant of EYA1 (Protein phosphatase EYA1)
I30V (p.Ile30Val) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs1554565600
- ClinGen CA371529332
- cosmic curated COSV10037
- ClinVar RCV000607103
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.10
- MetaLR 0.12
- MetaSVM -1.06
- PolyPhen-2 0.01
- SIFT 0.08
- MutPred 0.14
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available