D95N (p.Asp95Asn) variant of CHRNA4 (P43681)
D95N (p.Asp95Asn) 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 0.83 / 1. The record also includes population frequency data.
D95N (p.Asp95Asn) variant details
- p.Asp95Asn
- rs761317422
- ClinGen CA313607
- NCI-TCGA Cosmic COSV6471
- ClinVar RCV000186964
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available