K62N (p.Lys62Asn) variant of MMAA (Q8IVH4)
K62N (p.Lys62Asn) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K62N (p.Lys62Asn) variant details
- p.Lys62Asn
- gnomAD 4-145639325-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available