L10Q (p.Leu10Gln) variant of PTH1R (Q03431)
L10Q (p.Leu10Gln) in PTH1R (Q03431) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L10Q (p.Leu10Gln) variant details
- p.Leu10Gln
- gnomAD 3-46883588-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.15
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available