V48I (p.Val48Ile) variant of SMC3 (Q9UQE7)
V48I (p.Val48Ile) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- gnomAD 10-110575347-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.56
- ESM-1b 0.63
- AlphaMissense 0.39
- CADD 27.40
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available