H5N (p.His5Asn) variant of PDGFRA (P16234)
H5N (p.His5Asn) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
H5N (p.His5Asn) variant details
- p.His5Asn
- gnomAD 4-54258781-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.06
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available