A6T (p.Ala6Thr) variant of PDGFRB (P09619)
A6T (p.Ala6Thr) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- ExAC rs766578665
- gnomAD rs766578665
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.04
- CADD 0.87
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available