M39T (p.Met39Thr) variant of PTH (Parathyroid hormone)
M39T (p.Met39Thr) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
M39T (p.Met39Thr) variant details
- p.Met39Thr
- gnomAD rs769151895
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- MetaLR 0.77
- MetaSVM 0.69
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available