E127G (p.Glu127Gly) variant of CASR (P41180)
E127G (p.Glu127Gly) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Familial hypocalciuric hypercalcemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E127G (p.Glu127Gly) variant details
- p.Glu127Gly
- rs121909260
- ClinGen CA213599
- ClinVar RCV000029450
- ClinVar RCV000429931
- Likely pathogenic
- not provided; Familial hypocalciuric hypercalcemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.51
- MetaLR 0.57
- MetaSVM 0.10
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (not provided; Familial hypocalciuric hypercalcemia)
- EBI: Pathogenic (in HYPOC1)
- UniProt: Pathogenic (in HYPOC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available