P51A (p.Pro51Ala) variant of TSHR (Thyrotropin receptor)
P51A (p.Pro51Ala) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P51A (p.Pro51Ala) variant details
- p.Pro51Ala
- ExAC rs752234113
- gnomAD rs752234113
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available