G144R (p.Gly144Arg) variant of SPTBN2 (O15020)
G144R (p.Gly144Arg) 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 0.77 / 1. The record also includes population frequency data.
G144R (p.Gly144Arg) variant details
- p.Gly144Arg
- rs2496554180
- ClinGen CA381483660
- ClinVar RCV002618384
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.76
- CADD 26.30
- PolyPhen-2 1.00
- 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 3.6e-06)