P3L (p.Pro3Leu) variant of TSHR (Thyrotropin receptor)
P3L (p.Pro3Leu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- cosmic curated COSV53319
- gnomAD rs1263008401
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.28
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available