R17L (p.Arg17Leu) variant of ERCC3 (P19447)
R17L (p.Arg17Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- ExAC rs771417265
- gnomAD rs771417265
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- ESM-1b 0.09
- AlphaMissense 0.26
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available