S9A (p.Ser9Ala) variant of PRKN (O60260)
S9A (p.Ser9Ala) in PRKN (O60260) 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 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9A (p.Ser9Ala) variant details
- p.Ser9Ala
- rs111356273
- NCI-TCGA Cosmic COSV5823
- cosmic curated COSV58239
- gnomAD rs111356273
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.77
- MetaLR 0.92
- MetaSVM 1.08
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.543