A37V (p.Ala37Val) variant of TERF2 (Q15554)
A37V (p.Ala37Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- TOPMed rs1330353768
- gnomAD rs1330353768
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.967