K48N (p.Lys48Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
K48N (p.Lys48Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD 15-63043729-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available