I6N (p.Ile6Asn) variant of PTH1R (Q03431)
I6N (p.Ile6Asn) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
I6N (p.Ile6Asn) variant details
- p.Ile6Asn
- gnomAD 3-46883576-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.14
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available