M3L (p.Met3Leu) variant of SMARCB1 (Q12824)
M3L (p.Met3Leu) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M3L (p.Met3Leu) variant details
- p.Met3Leu
- Ensembl rs2145951892
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0021