V179M (p.Val179Met) variant of GNA11 (P29992)
V179M (p.Val179Met) in GNA11 (P29992) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Familial hypoparathyroidism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V179M (p.Val179Met) variant details
- p.Val179Met
- Ensembl rs2145320870
- Likely pathogenic
- Familial hypoparathyroidism
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.75
- CADD 28.80
- PolyPhen-2 0.48
- SIFT 0.01
- ClinVar: Likely pathogenic (Familial hypoparathyroidism)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available