P36S (p.Pro36Ser) variant of MMACHC (Q9Y4U1)
P36S (p.Pro36Ser) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- gnomAD 1-45507380-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.26
- CADD 18.70
- PolyPhen-2 0.07
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available