R13K (p.Arg13Lys) variant of SLC25A14 (O95258)
R13K (p.Arg13Lys) in SLC25A14 (O95258) is a missense change. 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.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- gnomAD rs1365578901
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.33
- MetaSVM -0.49
- CADD 24.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available