R64K (p.Arg64Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
R64K (p.Arg64Lys) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R64K (p.Arg64Lys) variant details
- p.Arg64Lys
- rs1272896075
- ClinGen CA341168691
- ClinVar RCV002278992
- gnomAD rs1272896075
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available