K65N (p.Lys65Asn) variant of COL11A1 (Collagen alpha-1(XI) chain)
K65N (p.Lys65Asn) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.28 / 1. The record also includes population frequency data and structural context.
K65N (p.Lys65Asn) variant details
- p.Lys65Asn
- TOPMed rs928084007
- gnomAD rs928084007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.09
- CADD 21.40
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available