M49T (p.Met49Thr) variant of PTH (Parathyroid hormone)
M49T (p.Met49Thr) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M49T (p.Met49Thr) variant details
- p.Met49Thr
- gnomAD 11-13492607-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- MetaLR 0.31
- MetaSVM -0.89
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.23
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available