A21V (p.Ala21Val) variant of TERF2 (Q15554)
A21V (p.Ala21Val) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- cosmic curated COSV54748
- TOPMed rs1167733436
- gnomAD rs1167733436
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 14.70
- PolyPhen-2 0.07
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.123