N44D (p.Asn44Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
N44D (p.Asn44Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N44D (p.Asn44Asp) variant details
- p.Asn44Asp
- gnomAD rs1212864305
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.08
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available