D14E (p.Asp14Glu) variant of TSHR (Thyrotropin receptor)
D14E (p.Asp14Glu) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D14E (p.Asp14Glu) variant details
- p.Asp14Glu
- ExAC rs754574062
- gnomAD rs754574062
- cosmic curated COSV53326
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.20
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available