R89C (p.Arg89Cys) variant of SPTBN2 (O15020)
R89C (p.Arg89Cys) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- rs1565151375
- ClinGen CA381484210
- cosmic curated COSV59449
- ClinVar RCV000713036
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.40
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)