A88V (p.Ala88Val) variant of TERF2 (Q15554)
A88V (p.Ala88Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs146506589
- ClinGen CA283333262
- ClinVar RCV004472034
- ESP rs146506589
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available