G52D (p.Gly52Asp) variant of TERF2 (Q15554)
G52D (p.Gly52Asp) 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.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- cosmic curated COSV10454
- gnomAD rs1375360299
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.03
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.485