P20S (p.Pro20Ser) variant of EYA1 (Protein phosphatase EYA1)
P20S (p.Pro20Ser) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- 1000Genomes rs1445404
- ESP rs1445404
- ExAC rs1445404
- TOPMed rs1445404
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Benign (in dbSNP:rs1445404)
- UniProt: Benign (in dbSNP:rs1445404)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available