H18Y (p.His18Tyr) variant of ERCC3 (P19447)
H18Y (p.His18Tyr) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H18Y (p.His18Tyr) variant details
- p.His18Tyr
- Ensembl rs2104783364
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available