S104L (p.Ser104Leu) variant of FGA (Fibrinogen alpha chain)
S104L (p.Ser104Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
S104L (p.Ser104Leu) variant details
- p.Ser104Leu
- rs763555716
- NCI-TCGA Cosmic COSV5739
- cosmic curated COSV57393
- ExAC rs763555716
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.28
- CADD 13.60
- PolyPhen-2 0.08
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)