A127V (p.Ala127Val) variant of NR3C1 (Glucocorticoid receptor)
A127V (p.Ala127Val) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- gnomAD rs1179697284
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- CADD 27.20
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)