D27N (p.Asp27Asn) variant of PTH1R (Q03431)
D27N (p.Asp27Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- gnomAD 3-46893910-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.25
- CADD 28.80
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available