K330N (p.Lys330Asn) variant of SMC1A (Q14683)
K330N (p.Lys330Asn) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
K330N (p.Lys330Asn) variant details
- p.Lys330Asn
- Ensembl rs1172651579
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- ESM-1b 1.00
- AlphaMissense 0.60
- Structural context available