H71R (p.His71Arg) variant of ERCC3 (P19447)
H71R (p.His71Arg) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H71R (p.His71Arg) variant details
- p.His71Arg
- gnomAD rs1258618385
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 24.60
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available