F128I (p.Phe128Ile) variant of CASR (P41180)
F128I (p.Phe128Ile) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
F128I (p.Phe128Ile) variant details
- p.Phe128Ile
- rs104893696
- ClinGen CA354362780
- ClinVar RCV001341567
- Ensembl rs104893696
- Uncertain significance
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.74
- MetaLR 0.59
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.10
- ClinVar: Uncertain significance (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Structural context available