A44V (p.Ala44Val) variant of TERF2 (Q15554)
A44V (p.Ala44Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- gnomAD rs1345311616
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.08
- CADD 24.40
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 4.1e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.218