T33I (p.Thr33Ile) variant of MMADHC (Q9H3L0)
T33I (p.Thr33Ile) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- gnomAD rs1323175121
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.48
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available