A21P (p.Ala21Pro) variant of FH (P07954)
A21P (p.Ala21Pro) in FH (P07954) 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 0.64 / 1. The record also includes structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- rs2147926981
- ClinGen CA345442905
- ClinVar RCV003020308
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.73
- PolyPhen-2 0.00
- SIFT 0.47
- MutPred 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available