H54P (p.His54Pro) variant of SLC30A8 (Q8IWU4)
H54P (p.His54Pro) in SLC30A8 (Q8IWU4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H54P (p.His54Pro) variant details
- p.His54Pro
- ESP rs141730422
- ExAC rs141730422
- TOPMed rs141730422
- gnomAD rs141730422
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.53
- MetaLR 0.36
- MetaSVM -0.28
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available