P27S (p.Pro27Ser) variant of PDGFRB (P09619)
P27S (p.Pro27Ser) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD rs758514857
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available