R4S (p.Arg4Ser) variant of ERCC3 (P19447)
R4S (p.Arg4Ser) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- TOPMed rs1394007429
- gnomAD rs1394007429
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.63
- CADD 20.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available