G17S (p.Gly17Ser) variant of CACNA1B (Q00975)
G17S (p.Gly17Ser) in CACNA1B (Q00975) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- rs187204220
- ClinGen CA5375606
- cosmic curated COSV53132
- ClinVar RCV001598124
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- MetaLR 0.12
- MetaSVM -0.55
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.28)
- Structural context available