K12R (p.Lys12Arg) variant of ERCC3 (P19447)
K12R (p.Lys12Arg) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- Ensembl rs1032532070
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available