M144L (p.Met144Leu) variant of KCNB1 (Q14721)
M144L (p.Met144Leu) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided.
M144L (p.Met144Leu) variant details
- p.Met144Leu
- rs2516924168
- cosmic curated COSV65570
- ClinGen CA408949547
- ClinVar RCV002284840
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance