Q35K (p.Gln35Lys) variant of ERCC3 (P19447)
Q35K (p.Gln35Lys) 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.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- TOPMed rs1250589018
- gnomAD rs1250589018
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available