T61S (p.Thr61Ser) variant of MMADHC (Q9H3L0)
T61S (p.Thr61Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T61S (p.Thr61Ser) variant details
- p.Thr61Ser
- ExAC rs747475934
- gnomAD rs747475934
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available