I28T (p.Ile28Thr) variant of SMARCB1 (Q12824)
I28T (p.Ile28Thr) in SMARCB1 (Q12824) 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, experimental measurements, published literature, and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- gnomAD 22-23787252-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 30.00
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.986
- Literature evidence available