S48N (p.Ser48Asn) variant of PDGFRB (P09619)
S48N (p.Ser48Asn) in PDGFRB (P09619) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- Ensembl rs2113912651
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.20
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available