P48S (p.Pro48Ser) variant of MMADHC (Q9H3L0)
P48S (p.Pro48Ser) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- ExAC rs778041300
- gnomAD rs778041300
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available