P41Q (p.Pro41Gln) variant of GHR (Growth hormone receptor)
P41Q (p.Pro41Gln) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P41Q (p.Pro41Gln) variant details
- p.Pro41Gln
- gnomAD 5-42629087-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available