P6T (p.Pro6Thr) variant of PDGFRA (P16234)
P6T (p.Pro6Thr) in PDGFRA (P16234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- ExAC rs759019262
- gnomAD rs759019262
- Missense
- Variant Prioritization Score for Impact Estimate 0.0755
- REVEL 0.02
- MetaLR 0.17
- MetaSVM -0.99
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available