M164T (p.Met164Thr) variant of C3 (Complement C3)
M164T (p.Met164Thr) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M164T (p.Met164Thr) variant details
- p.Met164Thr
- ExAC rs746775340
- gnomAD rs746775340
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.14
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available