M14I (p.Met14Ile) variant of PTH (Parathyroid hormone)
M14I (p.Met14Ile) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M14I (p.Met14Ile) variant details
- p.Met14Ile
- gnomAD 11-13492814-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- MetaLR 0.43
- MetaSVM -0.32
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available