A38T (p.Ala38Thr) variant of F5 (Coagulation factor V)
A38T (p.Ala38Thr) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Thrombophilia due to activated protein C resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs184663825
- ClinGen CA32418078
- ClinVar RCV003989414
- ClinVar RCV005637102
- Uncertain significance
- not provided; Thrombophilia due to activated protein C resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.73
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Thrombophilia due to activated protein C resistanc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: The management of depression during pregnancy: a report from the American Psychiatric Association and the American… (PMID 20027064)
- Cited in: Factor V Leiden Thrombophilia. (PMID 20301542)