A36S (p.Ala36Ser) variant of GNA11 (P29992)
A36S (p.Ala36Ser) in GNA11 (P29992) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- ExAC rs773203722
- gnomAD rs773203722
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available