P6Q (p.Pro6Gln) variant of PDGFRA (P16234)
P6Q (p.Pro6Gln) in PDGFRA (P16234) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- NCI-TCGA Cosmic COSV5726
- cosmic curated COSV57269
- NCI-TCGA Cosmic COSV5727
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0921
- REVEL 0.05
- MetaLR 0.11
- MetaSVM -1.03
- CADD 2.84
- PolyPhen-2 0.00
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available