N4T (p.Asn4Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
N4T (p.Asn4Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N4T (p.Asn4Thr) variant details
- p.Asn4Thr
- ExAC rs773011491
- gnomAD rs773011491
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.13
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available