L72P (p.Leu72Pro) variant of PTH (Parathyroid hormone)
L72P (p.Leu72Pro) in PTH (Parathyroid hormone) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
L72P (p.Leu72Pro) variant details
- p.Leu72Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.24
- MetaLR 0.28
- MetaSVM -0.73
- CADD 13.80
- PolyPhen-2 0.31
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)