V6G (p.Val6Gly) variant of PCCA (P05165)
V6G (p.Val6Gly) in PCCA (P05165) 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 0.38 / 1. The record also includes population frequency data and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- TOPMed rs1431176397
- gnomAD rs1431176397
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available