H115P (p.His115Pro) variant of SMC1A (Q14683)
H115P (p.His115Pro) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H115P (p.His115Pro) variant details
- p.His115Pro
- TOPMed rs782554846
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.90
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available