K62N (p.Lys62Asn) variant of F13A1 (Coagulation factor XIII A chain)
K62N (p.Lys62Asn) in F13A1 (Coagulation factor XIII A chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor XIII, A subunit, deficiency of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
K62N (p.Lys62Asn) variant details
- p.Lys62Asn
- rs2113184204
- ClinGen CA362742287
- ClinVar RCV001420450
- Ensembl rs2113184204
- Uncertain significance
- Factor XIII, A subunit, deficiency of
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.80
- MetaLR 0.11
- MetaSVM -1.01
- SIFT 0.00
- MutPred 0.59
- ClinVar: Uncertain significance (Factor XIII, A subunit, deficiency of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available