R62K (p.Arg62Lys) variant of ERCC3 (P19447)
R62K (p.Arg62Lys) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R62K (p.Arg62Lys) variant details
- p.Arg62Lys
- gnomAD rs1412591056
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available