V66I (p.Val66Ile) variant of PTH (Parathyroid hormone)
V66I (p.Val66Ile) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- rs200119869
- ClinGen CA5893178
- ClinVar RCV004218546
- ESP rs200119869
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.20
- MetaLR 0.37
- MetaSVM -0.81
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available