A127V (p.Ala127Val) variant of TERF2 (Q15554)
A127V (p.Ala127Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A127V (p.Ala127Val) variant details
- p.Ala127Val
- Ensembl rs1567458355
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -0.99
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available