D63H (p.Asp63His) variant of SLC26A2 (Sulfate transporter)
D63H (p.Asp63His) in SLC26A2 (Sulfate transporter) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D63H (p.Asp63His) variant details
- p.Asp63His
- gnomAD 5-149977839-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.25
- PolyPhen-2 0.16
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available