M3V (p.Met3Val) variant of SMARCB1 (Q12824)
M3V (p.Met3Val) 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.
M3V (p.Met3Val) variant details
- p.Met3Val
- gnomAD 22-23787176-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0021
- Literature evidence available