M41I (p.Met41Ile) variant of RP2 (Protein XRP2)
M41I (p.Met41Ile) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M41I (p.Met41Ile) variant details
- p.Met41Ile
- rs145720330
- ClinGen CA10394182
- ClinVar RCV001511504
- ESP rs145720330
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.25
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available