V39D (p.Val39Asp) variant of TSHR (Thyrotropin receptor)
V39D (p.Val39Asp) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V39D (p.Val39Asp) variant details
- p.Val39Asp
- gnomAD 14-80955796-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.68
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available