K23N (p.Lys23Asn) variant of USH1C (Harmonin)
K23N (p.Lys23Asn) in USH1C (Harmonin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.423