K45T (p.Lys45Thr) variant of SMARCB1 (Q12824)
K45T (p.Lys45Thr) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K45T (p.Lys45Thr) variant details
- p.Lys45Thr
- gnomAD 22-23791796-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 29.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0008
- Literature evidence available