K101T (p.Lys101Thr) variant of ERCC2 (P18074)
K101T (p.Lys101Thr) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K101T (p.Lys101Thr) variant details
- p.Lys101Thr
- 1000Genomes rs201123342
- ExAC rs201123342
- gnomAD rs201123342
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.28
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.60
- CADD 22.30
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available