M165T (p.Met165Thr) variant of C9ORF72 (Q96LT7)
M165T (p.Met165Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M165T (p.Met165Thr) variant details
- p.Met165Thr
- Ensembl rs200598638
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.77
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available