Q24K (p.Gln24Lys) variant of PDGFRA (P16234)
Q24K (p.Gln24Lys) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q24K (p.Gln24Lys) variant details
- p.Gln24Lys
- gnomAD 4-54240086-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 5.18
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available