K108N (p.Lys108Asn) variant of SPTBN2 (O15020)
K108N (p.Lys108Asn) 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 0.44 / 1. The record also includes population frequency data.
K108N (p.Lys108Asn) variant details
- p.Lys108Asn
- ESP rs143691410
- ExAC rs143691410
- TOPMed rs143691410
- gnomAD rs143691410
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.47
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)