A12G (p.Ala12Gly) variant of PCCB (P05166)
A12G (p.Ala12Gly) in PCCB (P05166) 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 0.22 / 1. The record also includes population frequency data and structural context.
A12G (p.Ala12Gly) variant details
- p.Ala12Gly
- TOPMed rs1257439275
- gnomAD rs1257439275
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available