P28A (p.Pro28Ala) variant of MMADHC (Q9H3L0)
P28A (p.Pro28Ala) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P28A (p.Pro28Ala) variant details
- p.Pro28Ala
- gnomAD rs1319731753
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.24
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available