H5L (p.His5Leu) variant of PDGFRA (P16234)
H5L (p.His5Leu) in PDGFRA (P16234) 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 0.14 / 1. The record also includes population frequency data and structural context.
H5L (p.His5Leu) variant details
- p.His5Leu
- ExAC rs776018656
- gnomAD rs776018656
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.08
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.98
- CADD 5.31
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available