K5N (p.Lys5Asn) variant of CHD2 (O14647)
K5N (p.Lys5Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- gnomAD 15-92901252-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- MetaLR 0.45
- MetaSVM -0.17
- CADD 23.10
- PolyPhen-2 0.08
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available