P6R (p.Pro6Arg) variant of PDGFRA (P16234)
P6R (p.Pro6Arg) in PDGFRA (P16234) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- gnomAD 4-54258783-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available