V20A (p.Val20Ala) variant of SMC3 (Q9UQE7)
V20A (p.Val20Ala) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD 10-110568981-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available