F81I (p.Phe81Ile) variant of PDGFRB (P09619)
F81I (p.Phe81Ile) in PDGFRB (P09619) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
F81I (p.Phe81Ile) variant details
- p.Phe81Ile
- rs2113912334
- ClinGen CA361728392
- ClinVar RCV001764816
- Ensembl rs2113912334
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.33
- MetaLR 0.17
- MetaSVM -0.82
- PolyPhen-2 0.99
- SIFT 0.05
- EVE 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available