N48D (p.Asn48Asp) variant of CLDN10 (Claudin-10)
N48D (p.Asn48Asp) in CLDN10 (Claudin-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- rs747687660
- gnomAD 13-95433909-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.40
- MetaSVM -0.47
- CADD 17.60
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available