A2V (p.Ala2Val) variant of TERF2 (Q15554)
A2V (p.Ala2Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD rs1406916663
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score 0.68