S7T (p.Ser7Thr) variant of SMARCB1 (Q12824)
S7T (p.Ser7Thr) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- gnomAD 22-23787189-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 23.30
- PolyPhen-2 0.15
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -1.12
- Literature evidence available