K48E (p.Lys48Glu) variant of USH2A (Usherin)
K48E (p.Lys48Glu) in USH2A (Usherin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Usher syndrome type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- gnomAD rs1243255003
- Uncertain significance
- Usher syndrome type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.02
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Usher syndrome type 2A)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available