M86V (p.Met86Val) variant of NR3C1 (Glucocorticoid receptor)
M86V (p.Met86Val) in NR3C1 (Glucocorticoid receptor) 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 0.42 / 1. The record also includes population frequency data.
M86V (p.Met86Val) variant details
- p.Met86Val
- rs772735144
- ClinGen CA3487105
- ClinVar RCV003553776
- ExAC rs772735144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)