T61I (p.Thr61Ile) variant of MMADHC (Q9H3L0)
T61I (p.Thr61Ile) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T61I (p.Thr61Ile) variant details
- p.Thr61Ile
- ExAC rs747475934
- gnomAD rs747475934
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available