P20T (p.Pro20Thr) variant of EYA1 (Protein phosphatase EYA1)
P20T (p.Pro20Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- 1000Genomes rs1445404
- ESP rs1445404
- ExAC rs1445404
- TOPMed rs1445404
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.32
- MetaLR 0.20
- MetaSVM -0.65
- CADD 23.60
- PolyPhen-2 0.11
- SIFT 0.00
- EBI: Benign (in dbSNP:rs1445404)
- UniProt: Benign (in dbSNP:rs1445404)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available