T138A (p.Thr138Ala) variant of TERF2 (Q15554)
T138A (p.Thr138Ala) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T138A (p.Thr138Ala) variant details
- p.Thr138Ala
- gnomAD rs2014159179
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.02
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available