R77Q (p.Arg77Gln) variant of SPTBN2 (O15020)
R77Q (p.Arg77Gln) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar 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.
R77Q (p.Arg77Gln) variant details
- p.Arg77Gln
- cosmic curated COSV10518
- 1000Genomes rs183081994
- ExAC rs183081994
- gnomAD rs183081994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.40
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)