P66R (p.Pro66Arg) variant of ERCC3 (P19447)
P66R (p.Pro66Arg) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P66R (p.Pro66Arg) variant details
- p.Pro66Arg
- TOPMed rs1439555872
- gnomAD rs1439555872
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.03
- ESM-1b 0.46
- AlphaMissense 0.08
- CADD 16.70
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available