N40N (p.Asn40Asn) variant of GHR (Growth hormone receptor)
N40N (p.Asn40Asn) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N40N (p.Asn40Asn) variant details
- p.Asn40Asn
- gnomAD 5-42629087-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.318
- CADD 8.02
- Population evidence available
- Structural context available
- Literature evidence available