M38L (p.Met38Leu) variant of SMARCB1 (Q12824)
M38L (p.Met38Leu) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- Ensembl rs2145959968
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.509