N55K (p.Asn55Lys) variant of SMC1A (Q14683)
N55K (p.Asn55Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- gnomAD rs2075726974
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.10
- MetaSVM -1.02
- CADD 23.30
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available