A9T (p.Ala9Thr) variant of PCCB (P05166)
A9T (p.Ala9Thr) in PCCB (P05166) 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 0.37 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- NCI-TCGA TCGA novel
- Ensembl rs1941476162
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available