I156V (p.Ile156Val) variant of SPTBN2 (O15020)
I156V (p.Ile156Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
I156V (p.Ile156Val) variant details
- p.Ile156Val
- ExAC rs753547565
- TOPMed rs753547565
- gnomAD rs753547565
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.43
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available