P18H (p.Pro18His) variant of MMACHC (Q9Y4U1)
P18H (p.Pro18His) in MMACHC (Q9Y4U1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P18H (p.Pro18His) variant details
- p.Pro18His
- rs371004372
- NCI-TCGA Cosmic COSV6898
- ESP rs371004372
- ExAC rs371004372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.55
- CADD 26.60
- PolyPhen-2 0.81
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available