A19T (p.Ala19Thr) variant of FH (P07954)
A19T (p.Ala19Thr) 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 0.36 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs1194889415
- ClinGen CA345442932
- ClinVar RCV003481598
- gnomAD rs1194889415
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.34
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available