R15W (p.Arg15Trp) variant of ERCC3 (P19447)
R15W (p.Arg15Trp) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- gnomAD rs1454594744
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.12
- ESM-1b 0.60
- AlphaMissense 0.27
- CADD 26.50
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available