M1N (p.Met1Asn) variant of PDGFRA (P16234)
M1N (p.Met1Asn) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M1N (p.Met1Asn) variant details
- p.Met1Asn
- gnomAD 4-54240086-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.417
- CADD 3.17
- Population evidence available
- Structural context available
- Literature evidence available