P16T (p.Pro16Thr) variant of TSHR (Thyrotropin receptor)
P16T (p.Pro16Thr) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- ExAC rs778660440
- gnomAD rs778660440
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.12
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available