P23A (p.Pro23Ala) variant of FGFR2 (P21802)
P23A (p.Pro23Ala) in FGFR2 (P21802) 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 0.45 / 1. The record also includes structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs1309596973
- ClinGen CA378327983
- ClinVar RCV003325743
- TOPMed rs1309596973
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.23
- MetaLR 0.51
- MetaSVM -0.18
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available