P37S (p.Pro37Ser) variant of MMACHC (Q9Y4U1)
P37S (p.Pro37Ser) in MMACHC (Q9Y4U1) 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.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- gnomAD rs1353976831
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.36
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available