A13S (p.Ala13Ser) variant of GHR (Growth hormone receptor)
A13S (p.Ala13Ser) in GHR (Growth hormone 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, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 5-42565911-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.34
- CADD 25.30
- PolyPhen-2 0.27
- SIFT 0.02
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available