A61P (p.Ala61Pro) variant of TERF2 (Q15554)
A61P (p.Ala61Pro) in TERF2 (Q15554) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A61P (p.Ala61Pro) variant details
- p.Ala61Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.05
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.8e-05)
- Structural context available