D41H (p.Asp41His) variant of SLC12A1 (Q13621)
D41H (p.Asp41His) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- gnomAD rs2037423993
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- MetaLR 0.72
- MetaSVM 0.66
- CADD 23.10
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available