P78R (p.Pro78Arg) variant of EYA1 (Protein phosphatase EYA1)
P78R (p.Pro78Arg) in EYA1 (Protein phosphatase EYA1) is a missense change. 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.
P78R (p.Pro78Arg) variant details
- p.Pro78Arg
- gnomAD rs1414412230
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.86
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available