V70A (p.Val70Ala) variant of NR3C1 (Glucocorticoid receptor)
V70A (p.Val70Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V70A (p.Val70Ala) variant details
- p.Val70Ala
- cosmic curated COSV51542
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 12.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0229