L91P (p.Leu91Pro) variant of ERCC2 (P18074)
L91P (p.Leu91Pro) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L91P (p.Leu91Pro) variant details
- p.Leu91Pro
- cosmic curated COSV55539
- Ensembl rs1972509341
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.58
- AlphaMissense 0.87
- MetaLR 0.55
- MetaSVM 0.05
- CADD 28.60
- PolyPhen-2 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available