Q37K (p.Gln37Lys) variant of GHR (Growth hormone receptor)
Q37K (p.Gln37Lys) in GHR (Growth hormone receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q37K (p.Gln37Lys) variant details
- p.Gln37Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available