A177V (p.Ala177Val) variant of F12 (Coagulation factor XII)
A177V (p.Ala177Val) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary angioedema type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A177V (p.Ala177Val) variant details
- p.Ala177Val
- rs144821595
- ClinGen CA3581452
- ClinVar RCV001263429
- ESP rs144821595
- Benign
- Hereditary angioedema type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.22
- CADD 8.75
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Benign (Hereditary angioedema type 3)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available