K3R (p.Lys3Arg) variant of ERCC3 (P19447)
K3R (p.Lys3Arg) in ERCC3 (P19447) 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 0.19 / 1. The record also includes population frequency data and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- rs1028560626
- ClinGen CA55344388
- ClinVar RCV002649845
- TOPMed rs1028560626
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available