L36Q (p.Leu36Gln) variant of GHR (Growth hormone receptor)
L36Q (p.Leu36Gln) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L36Q (p.Leu36Gln) variant details
- p.Leu36Gln
- gnomAD 5-42629074-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.43
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available