M147V (p.Met147Val) variant of SMC3 (Q9UQE7)
M147V (p.Met147Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M147V (p.Met147Val) variant details
- p.Met147Val
- Ensembl rs1405221526
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 25.50
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available