P30A (p.Pro30Ala) variant of ERCC3 (P19447)
P30A (p.Pro30Ala) in ERCC3 (P19447) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- ExAC rs751320999
- TOPMed rs751320999
- gnomAD rs751320999
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.10
- MetaSVM -1.04
- CADD 17.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available