G43R (p.Gly43Arg) variant of ERCC3 (P19447)
G43R (p.Gly43Arg) in ERCC3 (P19447) is a missense change. 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.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- Ensembl rs1685355046
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.40
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available