A13T (p.Ala13Thr) variant of GHR (Growth hormone receptor)
A13T (p.Ala13Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- cosmic curated COSV50130
- TOPMed rs1488219538
- gnomAD rs1488219538
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.23
- CADD 24.00
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available