A68V (p.Ala68Val) variant of TERF2 (Q15554)
A68V (p.Ala68Val) in TERF2 (Q15554) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs1471791865
- ClinGen CA396465794
- ClinVar RCV004076196
- TOPMed rs1471791865
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.00
- PolyPhen-2 0.52
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available