K17N (p.Lys17Asn) variant of COL4A4 (Collagen alpha-4(IV) chain)
K17N (p.Lys17Asn) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- ExAC rs748315118
- TOPMed rs748315118
- gnomAD rs748315118
- Likely benign
- Missense
- MetaLR 0.41
- MetaSVM -0.51
- SIFT 0.32
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available