K33N (p.Lys33Asn) variant of MLC1 (Membrane protein MLC1)
K33N (p.Lys33Asn) in MLC1 (Membrane protein MLC1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
K33N (p.Lys33Asn) variant details
- p.Lys33Asn
- Ensembl rs2062240247
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- ESM-1b 0.00
- AlphaMissense 0.47
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available