N42D (p.Asn42Asp) variant of PDGFRA (P16234)
N42D (p.Asn42Asp) in PDGFRA (P16234) 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, published literature, and structural context.
N42D (p.Asn42Asp) variant details
- p.Asn42Asp
- gnomAD 4-54261169-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.11
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available