Y2F (p.Tyr2Phe) variant of SLC8A1 (Sodium/calcium exchanger 1)
Y2F (p.Tyr2Phe) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
Y2F (p.Tyr2Phe) variant details
- p.Tyr2Phe
- rs115564742
- ClinGen CA1627826
- ClinVar RCV000923916
- 1000Genomes rs115564742
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0606
- REVEL 0.04
- CADD 1.89
- PolyPhen-2 0.04
- SIFT 0.94
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.075)
- Structural context available