P101L (p.Pro101Leu) variant of EYA1 (Protein phosphatase EYA1)
P101L (p.Pro101Leu) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar 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 0.73 / 1. The record also includes population frequency data and structural context.
P101L (p.Pro101Leu) variant details
- p.Pro101Leu
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10037
- Uncertain significance
- Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchiootorenal syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.67
- MetaLR 0.78
- MetaSVM 0.65
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Branchiootic syndrome 1; Otofaciocervical syndrome 1; Branchioot)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available