Y47S (p.Tyr47Ser) variant of SMARCB1 (Q12824)
Y47S (p.Tyr47Ser) in SMARCB1 (Q12824) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y47S (p.Tyr47Ser) variant details
- p.Tyr47Ser
- cosmic curated COSV54099
- ExAC rs781675982
- gnomAD rs781675982
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 29.60
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.401