P51S (p.Pro51Ser) variant of TSHR (Thyrotropin receptor)
P51S (p.Pro51Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P51S (p.Pro51Ser) variant details
- p.Pro51Ser
- ExAC rs752234113
- gnomAD rs752234113
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 24.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available