D30N (p.Asp30Asn) variant of PTH1R (Q03431)
D30N (p.Asp30Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- gnomAD 3-46893919-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available