Q77P (p.Gln77Pro) variant of CNGA1 (P29973)
Q77P (p.Gln77Pro) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q77P (p.Gln77Pro) variant details
- p.Gln77Pro
- rs1023439906
- ClinGen CA96698354
- ClinVar RCV002583088
- TOPMed rs1023439906
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- CADD 23.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available