V102I (p.Val102Ile) variant of MMADHC (Q9H3L0)
V102I (p.Val102Ile) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V102I (p.Val102Ile) variant details
- p.Val102Ile
- gnomAD rs1209705053
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available