N95D (p.Asn95Asp) variant of TERF2 (Q15554)
N95D (p.Asn95Asp) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N95D (p.Asn95Asp) variant details
- p.Asn95Asp
- cosmic curated COSV10583
- ExAC rs774078692
- gnomAD rs774078692
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.09
- MetaLR 0.26
- MetaSVM -0.68
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available