A22P (p.Ala22Pro) variant of TERF2 (Q15554)
A22P (p.Ala22Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- TOPMed rs1463783961
- gnomAD rs1463783961
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.204