R13S (p.Arg13Ser) variant of SLC25A14 (O95258)
R13S (p.Arg13Ser) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- ESP rs368952448
- TOPMed rs368952448
- gnomAD rs368952448
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.45
- MetaLR 0.38
- MetaSVM -0.46
- CADD 26.50
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available