N95S (p.Asn95Ser) variant of TERF2 (Q15554)
N95S (p.Asn95Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N95S (p.Asn95Ser) variant details
- p.Asn95Ser
- ExAC rs763759558
- TOPMed rs763759558
- gnomAD rs763759558
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- MetaLR 0.25
- MetaSVM -0.71
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available