S13N (p.Ser13Asn) variant of F12 (Coagulation factor XII)
S13N (p.Ser13Asn) in F12 (Coagulation factor XII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- gnomAD rs1240653084
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.16
- CADD 7.47
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available