N27T (p.Asn27Thr) variant of EYA1 (Protein phosphatase EYA1)
N27T (p.Asn27Thr) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N27T (p.Asn27Thr) variant details
- p.Asn27Thr
- ExAC rs751187504
- gnomAD rs751187504
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.60
- CADD 20.90
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available