V52del (p.Val52del) variant of PTH (Parathyroid hormone)

Name: PTH V52del (p.Val52del) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

V52del (p.Val52del) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.

V52del (p.Val52del) variant details

gnomAD 11-13492595-TCTA-
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.555
CADD 16.60
Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
Structural context available
Literature evidence available