V15V (p.Val15Val) variant of SMARCB1 (Q12824)
V15V (p.Val15Val) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V15V (p.Val15Val) variant details
- p.Val15Val
- rs759056710
- gnomAD 22-23787214-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 14.80
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.116
- Literature evidence available