H26N (p.His26Asn) variant of SLC25A14 (O95258)
H26N (p.His26Asn) in SLC25A14 (O95258) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H26N (p.His26Asn) variant details
- p.His26Asn
- gnomAD X-130345182-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.93
- CADD 13.70
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available