K94R (p.Lys94Arg) variant of ERCC3 (P19447)
K94R (p.Lys94Arg) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K94R (p.Lys94Arg) variant details
- p.Lys94Arg
- rs1371373080
- gnomAD rs1371373080
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available