L88H (p.Leu88His) variant of FGA (Fibrinogen alpha chain)
L88H (p.Leu88His) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
L88H (p.Leu88His) variant details
- p.Leu88His
- rs77531839
- ClinGen CA3115344
- ClinVar RCV004527254
- ClinVar RCV004588559
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.82
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)