R63H (p.Arg63His) variant of TERF2 (Q15554)
R63H (p.Arg63His) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- TOPMed rs1410828727
- gnomAD rs1410828727
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.01
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 5.5e-05)
- Structural context available