R110C (p.Arg110Cys) variant of SPTBN2 (O15020)
R110C (p.Arg110Cys) in SPTBN2 (O15020) 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.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- cosmic curated COSV59450
- TOPMed rs1237726892
- gnomAD rs1237726892
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.56
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)