S109R (p.Ser109Arg) variant of MMADHC (Q9H3L0)
S109R (p.Ser109Arg) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S109R (p.Ser109Arg) variant details
- p.Ser109Arg
- gnomAD rs1339360102
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.23
- CADD 20.30
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available