S147L (p.Ser147Leu) variant of CASR (P41180)
S147L (p.Ser147Leu) 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 hyperparathyroidism or Hypocalciuric hypercalcaemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
S147L (p.Ser147Leu) variant details
- p.Ser147Leu
- rs2107627809
- ClinGen CA354362903
- ClinVar RCV003320996
- ClinVar RCV006276299
- Likely pathogenic
- not provided; Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided; Familial hyperparathyroidism or Hypocalciuric hype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available