N370S (p.Asn370Ser) variant of SMC1A (Q14683)
N370S (p.Asn370Ser) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N370S (p.Asn370Ser) variant details
- p.Asn370Ser
- gnomAD rs1556890585
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.13
- MetaSVM -0.93
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available