V111A (p.Val111Ala) variant of SMC1A (Q14683)
V111A (p.Val111Ala) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V111A (p.Val111Ala) variant details
- p.Val111Ala
- gnomAD rs1556891055
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.34
- ESM-1b 0.91
- AlphaMissense 0.22
- MetaLR 0.18
- MetaSVM -0.77
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available