K34E (p.Lys34Glu) variant of PTH1R (Q03431)
K34E (p.Lys34Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K34E (p.Lys34Glu) variant details
- p.Lys34Glu
- gnomAD 3-46893931-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.07
- CADD 24.20
- PolyPhen-2 0.47
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available