L42H (p.Leu42His) variant of PDGFRB (P09619)
L42H (p.Leu42His) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L42H (p.Leu42His) variant details
- p.Leu42His
- Ensembl rs2113912688
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.17
- CADD 24.40
- PolyPhen-2 0.79
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available