L13V (p.Leu13Val) variant of EYA1 (Protein phosphatase EYA1)
L13V (p.Leu13Val) 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 Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- ExAC rs776514587
- gnomAD rs776514587
- Uncertain significance
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -0.96
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available