M22I (p.Met22Ile) variant of TSHR (Thyrotropin receptor)
M22I (p.Met22Ile) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M22I (p.Met22Ile) variant details
- p.Met22Ile
- gnomAD 14-80955746-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.11
- CADD 9.96
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available