M80T (p.Met80Thr) variant of CHD7 (Q9P2D1)
M80T (p.Met80Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M80T (p.Met80Thr) variant details
- p.Met80Thr
- gnomAD 8-60741671-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.83
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available