P71T (p.Pro71Thr) variant of SMC3 (Q9UQE7)
P71T (p.Pro71Thr) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P71T (p.Pro71Thr) variant details
- p.Pro71Thr
- gnomAD 10-110577433-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available