M49I (p.Met49Ile) variant of PTH (Parathyroid hormone)
M49I (p.Met49Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M49I (p.Met49Ile) variant details
- p.Met49Ile
- gnomAD 11-13492606-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.16
- MetaLR 0.34
- MetaSVM -0.82
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.28
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available