K47N (p.Lys47Asn) variant of USH2A (Usherin)
K47N (p.Lys47Asn) in USH2A (Usherin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- NCI-TCGA Cosmic COSV5642
- cosmic curated COSV56429
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available