T61A (p.Thr61Ala) variant of MMADHC (Q9H3L0)
T61A (p.Thr61Ala) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T61A (p.Thr61Ala) variant details
- p.Thr61Ala
- gnomAD rs1036471862
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available