M93T (p.Met93Thr) variant of COL4A4 (Collagen alpha-4(IV) chain)
M93T (p.Met93Thr) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M93T (p.Met93Thr) variant details
- p.Met93Thr
- gnomAD rs1190123470
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.16
- CADD 16.30
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available