D5N (p.Asp5Asn) variant of EYA1 (Protein phosphatase EYA1)
D5N (p.Asp5Asn) in EYA1 (Protein phosphatase EYA1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- cosmic curated COSV10515
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.57
- MetaLR 0.88
- MetaSVM 0.94
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available