P66Q (p.Pro66Gln) variant of ERCC3 (P19447)
P66Q (p.Pro66Gln) 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.
P66Q (p.Pro66Gln) variant details
- p.Pro66Gln
- TOPMed rs1439555872
- gnomAD rs1439555872
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.04
- ESM-1b 0.31
- AlphaMissense 0.07
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available