P6A (p.Pro6Ala) variant of CHRNA4 (P43681)
P6A (p.Pro6Ala) in CHRNA4 (P43681) 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 0.22 / 1. The record also includes population frequency data.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs796052312
- ClinGen CA317447587
- ClinVar RCV001507474
- TOPMed rs796052312
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.14
- CADD 9.17
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 6.7e-05)