P48S (p.Pro48Ser) variant of TSHR (Thyrotropin receptor)
P48S (p.Pro48Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- ExAC rs754498150
- gnomAD rs754498150
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.40
- CADD 23.70
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available