K130N (p.Lys130Asn) variant of F13A1 (Coagulation factor XIII A chain)
K130N (p.Lys130Asn) in F13A1 (Coagulation factor XIII A chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K130N (p.Lys130Asn) variant details
- p.Lys130Asn
- ExAC rs780404652
- gnomAD rs780404652
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.38
- MetaLR 0.36
- MetaSVM -0.56
- CADD 17.00
- PolyPhen-2 0.12
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available