N40Y (p.Asn40Tyr) variant of GHR (Growth hormone receptor)
N40Y (p.Asn40Tyr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N40Y (p.Asn40Tyr) variant details
- p.Asn40Tyr
- ExAC rs774448311
- gnomAD rs774448311
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.25
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available