A11P (p.Ala11Pro) variant of PDGFRB (P09619)
A11P (p.Ala11Pro) in PDGFRB (P09619) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- 1000Genomes rs199730626
- ExAC rs199730626
- gnomAD rs199730626
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.20
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available