S113G (p.Ser113Gly) variant of TERF2 (Q15554)
S113G (p.Ser113Gly) 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.
S113G (p.Ser113Gly) variant details
- p.Ser113Gly
- Ensembl rs2014171859
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -0.99
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available