P19L (p.Pro19Leu) variant of ADD1 (Alpha-adducin)
P19L (p.Pro19Leu) in ADD1 (Alpha-adducin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1210145135
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99297
- TOPMed rs1210145135
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.25
- MetaLR 0.21
- MetaSVM -0.68
- CADD 28.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available