V10I (p.Val10Ile) variant of FGA (Fibrinogen alpha chain)
V10I (p.Val10Ile) in FGA (Fibrinogen alpha chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs1235187701
- ClinGen CA358534515
- ClinVar RCV003151525
- gnomAD rs1235187701
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.09
- CADD 14.40
- PolyPhen-2 0.11
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)