N14K (p.Asn14Lys) variant of ABCA3 (Q99758)
N14K (p.Asn14Lys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- rs2505678099
- ClinGen CA394353301
- ClinVar RCV003079202
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available