A13T (p.Ala13Thr) variant of C9ORF72 (Q96LT7)
A13T (p.Ala13Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- TOPMed rs1819485696
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.24
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available