T98S (p.Thr98Ser) variant of MMADHC (Q9H3L0)
T98S (p.Thr98Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T98S (p.Thr98Ser) variant details
- p.Thr98Ser
- ExAC rs762037517
- gnomAD rs762037517
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.15
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available