R24T (p.Arg24Thr) variant of MMADHC (Q9H3L0)
R24T (p.Arg24Thr) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R24T (p.Arg24Thr) variant details
- p.Arg24Thr
- gnomAD rs1206729629
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.77
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available