N45S (p.Asn45Ser) variant of PDGFRB (P09619)
N45S (p.Asn45Ser) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- ExAC rs757431440
- gnomAD rs757431440
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available