M4V (p.Met4Val) variant of SMARCB1 (Q12824)
M4V (p.Met4Val) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- gnomAD 22-23787179-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.599
- Literature evidence available