N64D (p.Asn64Asp) variant of CASR (P41180)
N64D (p.Asn64Asp) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia 1; not provided; Neonatal severe primary hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
N64D (p.Asn64Asp) variant details
- p.Asn64Asp
- rs2107627423
- ClinGen CA354362345
- cosmic curated COSV10880
- ClinVar RCV002272589
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 1; not provided; Neonatal severe primary hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.76
- MetaLR 0.68
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.21
- EVE 0.12
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 1; not provided; Neonatal s)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available