S30C (p.Ser30Cys) variant of PDGFRB (P09619)
S30C (p.Ser30Cys) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- TOPMed rs561937933
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.10
- CADD 19.60
- PolyPhen-2 0.35
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00013)
- Structural context available