L6P (p.Leu6Pro) variant of SMARCB1 (Q12824)
L6P (p.Leu6Pro) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 22-23787186-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 24.20
- PolyPhen-2 0.72
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.346
- Literature evidence available