M98V (p.Met98Val) variant of NR3C1 (Glucocorticoid receptor)
M98V (p.Met98Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
M98V (p.Met98Val) variant details
- p.Met98Val
- ESP rs145020010
- TOPMed rs145020010
- gnomAD rs145020010
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.13
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)