L34P (p.Leu34Pro) variant of CASR (P41180)
L34P (p.Leu34Pro) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- rs1559955362
- ClinGen CA354362134
- ClinVar RCV000711027
- ClinVar RCV001231195
- Conflicting interpretations
- Autosomal dominant hypocalcemia 1; Familial hypocalciuric hypercalcemia; Neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant hypocalcemia 1; Familial hypocalciuric hyperc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available