S53G (p.Ser53Gly) variant of F5 (Coagulation factor V)
S53G (p.Ser53Gly) in F5 (Coagulation factor V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- gnomAD rs1335831778
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.40
- CADD 31.00
- PolyPhen-2 0.78
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available