K175R (p.Lys175Arg) variant of SPTBN2 (O15020)
K175R (p.Lys175Arg) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
K175R (p.Lys175Arg) variant details
- p.Lys175Arg
- gnomAD rs1269016964
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.15
- CADD 25.40
- PolyPhen-2 0.55
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)