P30L (p.Pro30Leu) variant of ERCC3 (P19447)
P30L (p.Pro30Leu) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs1371919188
- ClinGen CA348392293
- cosmic curated COSV53431
- ClinVar RCV002591410
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available