A24E (p.Ala24Glu) variant of PTH1R (Q03431)
A24E (p.Ala24Glu) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- cosmic curated COSV10963
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.21
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available