R61C (p.Arg61Cys) variant of SLC34A3 (Q8N130)
R61C (p.Arg61Cys) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R61C (p.Arg61Cys) variant details
- p.Arg61Cys
- rs750340368
- ClinGen CA5364260
- cosmic curated COSV10074
- ClinVar RCV003718088
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- MetaLR 0.02
- MetaSVM -1.00
- CADD 14.50
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available